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https://www.readbyqxmd.com/read/29778029/late-onset-childhood-neuronal-ceroid-lipofuscinosis-early-clinical-and-electroencephalographic-markers
#1
Lucas Beltrán, Gabriela Reyes Valenzuela, Mariana Loos, Rodrigo Vargas, Rafael Lizama, Pablo Spinsanti, Roberto Caraballo
PURPOSE: The objective of the study was to describe the initial clinical and electroencephalographic findings in children with late-infantile neuronal ceroid lipofuscinosis (LINCL). METHOD: The clinical charts of 35 patients seen between 1990 and 2016 were reviewed. The patients were divided into two groups: Group 1 (G1) consisting of 12 patients with NCL type 2 (CLN2) disease confirmed by enzymatic activity in dried blood spots on filter paper and/or genetic studies, and Group 2 (G2) consisting of 23 patients with a diagnosis of LINCL based on pathology studies by muscle biopsy...
May 15, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29777825/the-temporal-evolution-of-conceptual-object-representations-revealed-through-models-of-behavior-semantics-and-deep-neural-networks
#2
B B Bankson, M N Hebart, I I A Groen, C I Baker
Visual object representations are commonly thought to emerge rapidly, yet it has remained unclear to what extent early brain responses reflect purely low-level visual features of these objects and how strongly those features contribute to later categorical or conceptual representations. Here, we aimed to estimate a lower temporal bound for the emergence of conceptual representations by defining two criteria that characterize such representations: 1) conceptual object representations should generalize across different exemplars of the same object, and 2) these representations should reflect high-level behavioral judgments...
May 16, 2018: NeuroImage
https://www.readbyqxmd.com/read/29777677/usherin-defects-lead-to-early-onset-retinal-dysfunction-in-zebrafish
#3
Margo Dona, Ralph Slijkerman, Kimberly Lerner, Sanne Broekman, Jeremy Wegner, Taylor Howat, Theo Peters, Lisette Hetterschijt, Nando Boon, Erik de Vrieze, Nasrin Sorusch, Uwe Wolfrum, Hannie Kremer, Stephan Neuhauss, Jingjing Zang, Maarten Kamermans, Monte Westerfield, Jennifer Phillips, Erwin van Wijk
Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration and to evaluate future therapeutic strategies that could potentially halt the progression of this devastating disorder, an animal model is needed. The available Ush2a knock-out mouse model does not mimic the human phenotype, because it presents with only a mild and late-onset retinal degeneration. Using CRISPR/Cas9-technology, we introduced protein-truncating germline lesions into the zebrafish ush2a gene (ush2armc1 : c...
May 16, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29777668/anterior-pericardiectomy-for-post-infective-constrictive-pericarditis-intermediate-term-outcomes
#4
Anil Acharya, Raamesh Koirala, Nivesh Rajbhandari, Jyotindra Sharma, Bijoy Rajbanshi
BACKGROUND: Post tubercular constrictive pericarditis is prevalent pericardial disease in developing countries. Pericardiectomy is the treatment of choice but considered a procedure of high morbidity and mortality. METHODS: From January 2003 to December 2013 we performed 130 pericardiectomies. Mean age was 22.95±12.55 years with 92 (71%) males. All patients were symptomatic; 118 (91%) were in NYHA class III / IV. Almost all patients were diagnosed to be of tubercular origin; 14 (11 %) histopathologically proven, 77 (59%) with definitive history while 39 (30%) suspected to be of tubercular origin and 91 (70%) received prior antitubercular treatment...
May 16, 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29777647/correlates-of-postpartum-sexual-activity-and-contraceptive-use-in-kano-northern-nigeria
#5
Zubairu Iliyasu, Hadiza S Galadanci, Khadija M Danlami, Hamisu M Salihu, Muktar H Aliyu
Practices related to resumption of coitus after childbirth remains poorly documented in Nigeria. This study examined factors associated with sexual intercourse, delivery-coitus interval, and contraceptive use among postpartum women attending a tertiary centre in Kano, northern Nigeria. A cross section of 317 women attending immunization, postnatal and family planning clinics within 12 months of childbirth was interviewed using a structured questionnaire. Vaginal intercourse was resumed by most women (n=212; 66...
March 2018: African Journal of Reproductive Health
https://www.readbyqxmd.com/read/29777631/effect-of-deferasirox-erythropoietin-vs-erythropoietin-on-erythroid-response-in-low-int-1-risk-mds-patients-results-of-the-phase-ii-kallisto-trial
#6
Norbert Gattermann, Rosa Coll, Lutz Jacobasch, Allameddine Allameddine, Amin Azmon, Laurie DeBonnett, Andreas Bruederle, Jie Jin
OBJECTIVES: Erythropoiesis-stimulating agents (ESAs) remain first-choice to treat symptomatic anemia and delay transfusion dependence in most patients with lower-risk myelodysplastic syndromes (MDS) without del(5q). Deferasirox increased erythroid responses in some lower-risk MDS patients in clinical trials, and adding low-dose deferasirox to ESA treatment may further improve erythroid response. METHODS: KALLISTO (NCT01868477) was a randomized, open-label, multicenter, phase II study...
May 19, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29777362/the-silver-effect-of-admission-glucose-level-on-excellent-outcome-in-thrombolysed-stroke-patients
#7
Charlotte Rosso, Flore Baronnet, Belen Diaz, Raphael Le Bouc, Giulia Frasca Polara, Eric Jr Moulton, Sandrine Deltour, Anne Leger, Sophie Crozier, Yves Samson
Higher admission glucose levels (AGL) are associated with less favorable outcome in thrombolysis. But, could AGL's impact on outcome vary by onset-to-treatment (OTT) time? Is hyperglycemia associated with a shorter therapeutic time window for excellent outcome for thrombolysed stroke patients? We assessed predictive values of AGL, baseline NIHSS, age, and OTT time quartiles on excellent outcome (3-month modified Rankin score of 0-1) in 773 patients treated by rt-Pa. We added the AGL × OTT time quartile interaction in the model and separately analyzed the predictive values of AGL, age, and NIHSS for each OTT time quartile if the interaction was significant...
May 18, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29776999/stumbling-corrective-reaction-elicited-by-mechanical-and-electrical-stimulation-of-the-saphenous-nerve-in-walking-mice
#8
William Paganini Mayer, Turgay Akay
The ability to walk around in a natural environment requires the capacity to cope with unexpected obstacles that may disrupt locomotion. One such mechanism is called the stumbling corrective reaction (SCR) that enables animals to step over obstacles that would otherwise disturb the progression of swing movement. Here we use in vivo motion analysis and physiological recording techniques to describe the SCR in mice. We show that SCR can be elicited consistently in mice during locomotion by inserting an obstacle along the path of leg movement during swing phase...
May 18, 2018: Journal of Experimental Biology
https://www.readbyqxmd.com/read/29776944/giant-left-parietal-lobe-arachnoid-cyst-presenting-as-early-onset-dementia
#9
Rishi Raj, Ajay Venkatanarayan, Ahmad Sharayah, Douglas Ross
No abstract text is available yet for this article.
May 18, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29776894/amyloid-pet-in-neurodegenerative-diseases-with-dementia
#10
V Camacho, A Gómez-Grande, P Sopena, D García-Solís, M Gómez Río, C Lorenzo, S Rubí, J Arbizu
Alzheimer's disease (AD) is a neurodegenerative condition characterized by progressive cognitive decline and memory loss, and is the most common form of dementia. Amyloid plaques with neurofibrillary tangles are a neuropathological hallmark of AD that produces synaptic dysfunction and culminates later in neuronal loss. Amyloid PET is a useful, available and non-invasive technique that provides in vivo information about the cortical amyloid burden. In the latest revised criteria for the diagnosis of AD biomarkers were defined and integrated: pathological and diagnostic biomarkers (increased retention on fibrillar amyloid PET or decreased Aβ1-42 and increased T-Tau or P-Tau in CSF) and neurodegeneration or topographical biomarkers (temporoparietal hypometabolism on 18 F-FDG PET and temporal atrophy on MRI)...
May 15, 2018: Revista Española de Medicina Nuclear e Imagen Molecular
https://www.readbyqxmd.com/read/29776704/cerebellar-peduncle-injury-predicts-motor-impairments-in-preterm-infants-a-quantitative-tractography-study-at-term-equivalent-age
#11
Tatsuji Hasegawa, Kei Yamada, Takenori Tozawa, Tomohiro Chiyonobu, Sachiko Tokuda, Akira Nishimura, Hajime Hosoi, Masafumi Morimoto
PURPOSE: Cerebellar injury is well established as an important finding in preterm infants with cerebral palsy (CP). In this study, we investigated associations between injury to the cerebellar peduncles and motor impairments in preterm infants using quantitative tractography at term-equivalent age, which represents an early phase before the onset of motor impairments. METHODS: We studied 64 preterm infants who were born at <33 weeks gestational age. These infants were divided into three groups: CP, Non-CP (defined as infants with periventricular leukomalacia but having normal motor function), and a Normal group...
May 15, 2018: Brain & Development
https://www.readbyqxmd.com/read/29775865/influence-of-fatigue-and-velocity-on-the-latency-and-recruitment-order-of-scapular-muscles
#12
Guillermo Mendez-Rebolledo, Valeska Gatica-Rojas, Eduardo Guzman-Muñoz, Eduardo Martinez-Valdes, Rodrigo Guzman-Venegas, Francisco Jose Berral de la Rosa
OBJECTIVES: To determine the influence of velocity and fatigue on scapular muscle activation latency and recruitment order during a voluntary arm raise task, in healthy individuals. DESIGN: Cross-sectional study. SETTING: University laboratory. PARTICIPANTS: Twenty three male adults per group (high-velocity and low-velocity). MAIN OUTCOME MEASURES: Onset latency of scapular muscles [Anterior deltoid (AD), lower trapezius (LT), middle trapezius (MT), upper trapezius (UT), and serratus anterior (SA)] was assessed by surface electromyography...
April 19, 2018: Physical Therapy in Sport
https://www.readbyqxmd.com/read/29775848/long-term-outcome-in-children-with-neonatal-seizures-a-tertiary-center-experience-in-cohort-of-168-patients
#13
Biljana Vucetic Tadic, Ruzica Kravljanac, Vlada Sretenovic, Vladislav Vukomanovic
PURPOSE: The purpose of this study was to evaluate long-term outcome and assess predictors of prognosis in children with neonatal seizures (NS). METHOD: This retrospective study includes children with NS treated at our Institute from January the 1st 2005 until December the 31st 2015. The data were collected from medical charts and the electroencephalogram (EEG) database at the Institute. The predictive value was evaluated for following parameters: (1) characteristics of the patients, such as gender, gestational age, birth body weight, Apgar score, artificial ventilation; (2) etiology; (3) characteristics of seizures such as type, time of onset, resistance to treatment; and (4) EEG background activity and paroxysmal discharges...
May 15, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29775697/prodrome-and-non-prodrome-phenotypes-of-bladder-pain-syndrome-interstitial-cystitis
#14
John W Warren, Ningbo Jian, Lisa Gallicchio, David Wu, Daniel J Clauw
OBJECTIVE: To test the hypothesis that risk factors for BPS/IC in women differ between those with and without the BPS/IC prodrome. METHODS: Incident cases of BPS/IC and healthy controls were recruited nationally. More than half the BPS/IC cases reported subsyndromal urinary symptoms for decades before onset of BPS/IC and were identified as having the prodrome. Risk factors for BPS/IC were examined separately for cases with and without the prodrome using a set of matched controls...
May 15, 2018: Urology
https://www.readbyqxmd.com/read/29775599/model-to-determine-risk-of-pancreatic-cancer-in-patients-with-new-onset-diabetes
#15
Ayush Sharma, Harika Kandlakunta, Sajan Jiv Singh Nagpal, Feng Ziding, William Hoos, Gloria M Petersen, Suresh T Chari
BACKGROUND & AIMS: Of subjects with new-onset diabetes (based on glycemia) over the age of 50 years, approximately 1% are diagnosed with pancreatic cancer within 3 years. We aimed to develop and validate a model to determine risk of pancreatic cancer in individuals with new-onset diabetes. METHODS: We retrospectively collected data from 4 independent, non-overlapping cohorts of patients (n=1561) with new-onset diabetes (based on glycemia; data collected at date of diagnosis and 12 months before) in the Rochester Epidemiology Project, from January 1, 2000 through December 31, 2015 to create our model...
May 15, 2018: Gastroenterology
https://www.readbyqxmd.com/read/29775456/maternal-obesogenic-diet-induces-endometrial-hyperplasia-an-early-hallmark-of-endometrial-cancer-in-a-diethylstilbestrol-mouse-model
#16
Theresa O Owuor, Michaela Reid, Lauren Reschke, Ian Hagemann, Suellen Greco, Zeel Modi, Kelle H Moley
Thirty-eight percent of US adult women are obese, meaning that more children are now born of overweight and obese mothers, leading to an increase in predisposition to several adult onset diseases. To explore this phenomenon, we developed a maternal obesity animal model by feeding mice a diet composed of high fat/ high sugar (HF/HS) and assessed both maternal diet and offspring diet on the development of endometrial cancer (ECa). We show that maternal diet by itself did not lead to ECa initiation in wildtype offspring of the C57Bl/6J mouse strain...
2018: PloS One
https://www.readbyqxmd.com/read/29774929/-epidemiological-characteristics-and-inducing-factors-of-gastric-stump-cancer
#17
Lin Chen
Gastric stump cancer was initially defined as a carcinoma of the stomach occurring more than 5 years after surgery for gastric or duodenal benign disease. In recent years, as the number of total gastrectomy for benign disease has gradually decreased and the gastric cancer detection and operation rate have annually increased, residual recurrence of primary gastric cancer more than 10 years after gastric cancer surgery has also been considered as gastric stump cancer. The incidence of gastric stump cancer is increasing annually...
May 25, 2018: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/29774770/high-neurofilament-levels-are-associated-with-clinically-definite-multiple-sclerosis-in-children-and-adults-with-clinically-isolated-syndrome
#18
Roos M van der Vuurst de Vries, Yu Yi M Wong, Julia Y Mescheriakova, E Daniëlle van Pelt, Tessel F Runia, Naghmeh Jafari, Theodora Am Siepman, Marie-José Melief, Annet F Wierenga-Wolf, Marvin M van Luijn, Johnny P Samijn, Rinze F Neuteboom, Rogier Q Hintzen
BACKGROUND: A promising biomarker for axonal damage early in the disease course of multiple sclerosis (MS) is neurofilament light chain (NfL). It is unknown whether NfL has the same predictive value for MS diagnosis in children as in adults. OBJECTIVE: To explore the predictive value of NfL levels in cerebrospinal fluid (CSF) for MS diagnosis in paediatric and adult clinically isolated syndrome (CIS) patients. METHODS: A total of 88 adult and 65 paediatric patients with a first attack of demyelination were included and followed (mean follow up-time in adults: 62...
May 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/29774417/first-report-on-the-nationwide-incidence-of-type-1-diabetes-and-ketoacidosis-at-onset-in-children-in-serbia-a-multicenter-study
#19
Rade Vukovic, Maja D Jesic, Ivana Vorgucin, Sandra Stankovic, Nevena Folic, Tatjana Milenkovic, Silvija Sajic, Dragan Katanic, Sasa Zivic, Slavica Markovic, Ivan Soldatovic
Data regarding incidence of type 1 diabetes (T1DM), as well as data on frequency and severity of diabetic ketoacidosis (DKA) at the time of T1DM diagnosis is of paramount importance for national and regional healthcare planning. The aim of present multicenter study was to provide the first report regarding nationwide annual incidence rates for T1DM in youth in Serbia, as well as prevalence of DKA at the time of diagnosis. Data on all pediatric patients with newly diagnosed T1DM was retrospectively collected from all 15 regional centers for pediatric diabetes in Serbia during the period 2007-2017...
May 17, 2018: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29774208/long-term-outcome-of-transcatheter-device-closure-of-perimembranous-ventricular-septal-defects
#20
Krishna D Mandal, Danyan Su, Yusheng Pang
Background: Ventricular septal defect is a common congenital heart defect. Transcatheter closure of perimembranous ventricular septal defect (pmVSD) is an effective method alternative to surgical closure. The aim of the study is to evaluate the procedural result, early and long-term follow-up outcome of transcatheter closure of pmVSD. Methods: From January 2005 to December 2016, we retrospectively identified the patients who underwent transcatheter device closure of pmVSD. All patients underwent transthoracic echocardiography (TTE) and electrocardiogram (ECG) before and after the procedure...
2018: Frontiers in Pediatrics
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